ARSF

protein-coding

arylsulfatase F, the group of Sulfatases

Gene summary

This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase E, is not inhibited by warfarin. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jan 2011]

MANE transcript

NM_001201539.2

Inheritance

—

ClinVar variants

U:113B:18

Top phenotype

ARSF-related disorder

gnomAD constraint

pLI —, LoF o/e 1.07

Max pathogenic AF

—

Genomic locus

chrX:3,041,471-3,112,727

External References & Databases

Ensembl (ENSG00000062096)

Transcript & Mutation Effects

hg38 • Region Span ~71.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ARSF variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 79

not providedTotal: 11

ARSF-related disorderTotal: 10

Neurodevelopmental disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001201539.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			7 clinvar	7 clinvar	1 clinvar	15
missense			99 clinvar	5 clinvar	2 clinvar	106
nonsense			3 clinvar		1 clinvar	4
start loss						0
frameshift				1 clinvar	1 clinvar	2
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	113	13	5	131

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001201539.2	RefSeq	NP_001188468.1	10	MANE Select
ENST00000381127.6	Ensembl	ENSP00000370519.1	10	MANE Select
NM_001201538.2	RefSeq	NP_001188467.1	10	Standard
NM_004042.5	RefSeq	NP_004033.2	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of lipids
Post-translational protein modification
Metabolism of proteins
The activation of arylsulfatases
Gamma carboxylation, hypusine formation and arylsulfatase activation

Molecular Function

arylsulfatase activity
metal ion binding

Cellular Component

endoplasmic reticulum lumen
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000381127
Coding exons: 10
Length: 71256
Individuals with no LoFs: 125657
Homozygous LoFs: 24
Heterozygous LoFs: 65
Defined: 125746
p: 0.000354

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.387	260	243	1.07	0.0000193	3845
Missense (PolyPhen)		103	86.307	1.1934		1402
Synonymous	-2.32	133	103	1.29	0.00000906	1173
Loss of Function	-0.275	20	18.7	1.07	0.00000163	260

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00055	0.00043	rare
Latino/Admixed American	0.00018	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00051	0.00027	rare
Finnish	0.000063	0.000046	rare
European (Non-Finnish)	0.00077	0.00055	rare
South Asian	0.00024	0.00013	rare
Other	0.0012	0.00065	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.123

Intolerance Scores

LoFtool: 0.154
RVIS EVS: 0.36
RVIS percentile EVS: 74.66

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.000365

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium